FBN1 fibrillin 1
Gene ID: 2200, updated on 26-Mar-2023Gene type: protein coding
Also known as: FBN; SGS; WMS; MASS; MFLS; MFS1; OCTD; SSKS; WMS2; ACMICD; ECTOL1; GPHYSD2
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- Go to complete Gene record for FBN1
- Go to Variation Viewer for FBN1 variants
Summary
This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. GeneReviews: Not available | |
| Acromicric dysplasia | See labs |
| Ectopia lentis 1, isolated, autosomal dominant | See labs |
| Familial thoracic aortic aneurysm and aortic dissection MedGen: C4707243GeneReviews: Heritable Thoracic Aortic Disease Overview | See labs |
| Geleophysic dysplasia 2 | See labs |
| Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. GeneReviews: Not available | |
| Marfan syndrome | See labs |
| MASS syndrome | See labs |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | See labs |
| Stiff skin syndrome | See labs |
| Weill-Marchesani syndrome 2, dominant | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2019-12-04) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2019-12-04) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 15q21.1
- Sequence:
- Chromosome: 15; NC_000015.10 (48408313..48645709, complement)
- Total number of exons:
- 68
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for FBN1 variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FBN1 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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